OMIA 002222-9615 : Laryngeal paralysis, RAPGEF6-related in Canis lupus familiaris
Hadji Rasouliha et al. (2019) quantified the effect of the marker by calculating relative risk in a cohort of "all Miniature Bull Terriers fulfilling the inclusion criteria (n = 243). In this cohort, homozygosity for the RAPGEF6 insertion was associated with a 9.91-fold (95% CI: 5.75–17.1, p < 0.0001) increased risk for LP compared with dogs, which were homozygous wildtype or carried the insertion allele in heterozygous state. The risk in dogs carrying the insertion in heterozygous state was not significantly increased compared to dogs homozygous for the wildtype allele (RR = 1.75, 95% CI: 0.61–5.03, p = 0.30)".Clinical features: Hadji Rasouliha et al. (2019): "Laryngeal paralysis (LP) is the inability to abduct the arytenoid cartilages during inspiration, resulting in a partial to complete airway obstruction and consequent respiratory distress. Different forms of LP with varying age of onset exist in dogs. Hereditary early onset forms were reported in several dog breeds. In most breeds, hereditary LP is associated with other neurologic pathologies." Prevalence: Hadji Rasouliha et al. (2019): " The insertion allele was only found in Miniature Bull Terriers and Bull Terriers. It was absent from >1000 control dogs of other dog breeds". Breed: Miniature Bull Terrier. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RAPGEF6||Rap guanine nucleotide exchange factor (GEF) 6||Canis lupus familiaris||11||NC_051815.1 (20751119..20553837)||RAPGEF6||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1138||Miniature Bull Terrier||Laryngeal paralysis, RAPGEF6-related||RAPGEF6||insertion, gross (>20)||Naturally occurring variant||CanFam3.1||11||g.19841331insN||c.1793_1794insTTTTTTTTTTTTTTTTTTTTTAGCCCTTGAAATTTT||p.(I587Pfs*5)||XM_846793.5; XP_851886.2||2019||31647804|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Hadji Rasouliha, S., Barrientos, L., Anderegg, L., Klesty, C., Lorenz, J., Chevallier, L., Jagannathan, V., Rösch, S., Leeb, T. :|
|A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet 15:e1008416, 2019. Pubmed reference: 31647804. DOI: 10.1371/journal.pgen.1008416.|
|2011||Granger, N. :|
|Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J 188:274-85, 2011. Pubmed reference: 20638305. DOI: 10.1016/j.tvjl.2010.06.003.|
- Created by Frank Nicholas on 17 Jan 2020
- Changed by Frank Nicholas on 17 Jan 2020
- Changed by Imke Tammen2 on 11 Dec 2020